3 December 2014
The genetic testing company 23andMe has launched their Personal Genome Service (PGS) in the UK.
The Health and Ancestry Test, which costs £125, reports over 100 genetic features including health-related variants. The company says that it is ‘not diagnostic but includes results for genes associated with certain inherited conditions such as Cystic Fibrosis or Sickle Cell Anaemia’ as well as risk factors for conditions such as ‘blood clotting, Alzheimer’s disease or Parkinson’s disease’ and variants linked with responses to selected medicines such as blood-clotting agent Warfarin.
23andMe are currently banned from offering direct-to-consumer PGS testing in the US following a 2013 ruling from the Food and Drugs Agency (FDA), a decision provoked by the company’s failure to comply (or apparently even engage with) the regulator’s requirements. The wanted data to support the accuracy and clinical utility of the test, since results suggesting high disease risks could lead recipients to seek significant medical interventions.
The UK PGS is a toned-down version of that previously offered in the US, with fewer than half the number of genetic variants reported. The Medicines and Healthcare Products Regulatory Agency (MHRA) reportedly says the 23andMe test ‘can be used with caution’. This is presumably because the MHRA regulates the analytical validity of such tests (i.e. in this case checks that it genuinely detects those genetic variants that it claims to detect), but not the clinical utility (how far this information is useful to inform medical care).
23andMe Chief executive Anne Wojcicki said: “I want to make people realise that science is accessible to everyone and anyone can understand their genome and it is fascinating”. This is arguably somewhat misleading, at least in the implication that learning about a few cherry-picked genetic variants from the vast numbers scattered across the whole genome sequence amounts to understanding the genome. The UK Department of Health, currently running the large-scale 100,000 Genomes Project to produce and interpret whole genome sequences from patients with rare diseases and cancer, reportedly said that, unsurprisingly, it was ‘behind the idea of using gene tests to guide patient care within the NHS’ but suggested caution before using the 23andMe test.
The UK clinical genetics community is understandably cautious with three main concerns: that the tests should not be undertaken for medical diagnosis; if undertaken for risk of serious inherited conditions they should not take place without pre-and post-test counselling; and that tests should not be undertaken on children.
UK doctors may not appreciate the MHRA suggestion that: "If after using the service, you have any questions or concerns you should speak to your healthcare professional". Whilst Health Education England (HEE) is currently hard at work developing a Genomics programme for NHS workforce education , the average GP does not necessarily have the time or expertise to understand the medical implications of disease-linked genetic variants detected by the 23andMe test.
Dr Ewan Birney, associate director of the EMBL-EBI in Hinxton observed: “The science is soundest behind 23andMe’s ancestry reports, which are good, but the majority of the rest of the reports are generally based on very small shifts of risk, which are better served by simply living healthier and getting more exercise”.
PHG Foundation Director Dr Hilary Burton commented:
"As a society we know very little about how genomic tests can be used to improve health in healthy populations and we are certainly a long way off promoting or even supporting their use, in effect, as personal screening tests. However, we have to recognise a future where there will be much wider access to genomic and other tests for a variety of health and non-health related purposes and that people will use a range of sources to develop their own personalised preventive health package.
As PGS becomes available in the UK we must ensure as far as possible that the tests do no harm whether for the individuals concerned or through their impact on the health service. This means that we must accelerate our agenda of raising awareness of genomics across all health professionals – from public health to primary care so that they can help people to use personal genome testing wisely and respond to any concerns and misconceptions that arise.
The launch of the new PGS in the UK will raise the profile of genomic testing for the public and for health professionals. In parallel with the much larger initiatives under the umbrella of the 100,000 Genomes Project now is a time to emphasise the importance of ensuring that genomic testing is used to improve health and to ensure an NHS legacy - one capable of integrating new genomic technologies effectively and efficiently into preventive care and personalised treatment."